What are the symptoms of congenital thymic hypoplasia?

summary

Congenital thymic hypoplasia is also known as DiGeorge syndrome or the third and fourth pair of pharyngeal sac syndrome. It is a congenital immune deficiency caused by the abnormal development of the first to the sixth pair of pharyngeal sac in early embryo. At 6-10 weeks of gestation, the thymus, parathyroid gland and some facial, aortic arch and cardiac tuberculosis developed from the cell components of the first to the sixth pair of pharyngeal sacs. At 12 weeks of gestation, the thymus migrated to the chest. Previously, the abnormal development of these embryonic tissues caused the syndrome. The disease was sporadic. Therefore, it is speculated that it was not caused by genetic defects, but by abnormal embryonic environment, If the mother is drunk, it may be one of the pathogenic factors. Pathological examination showed that thymus and thyroid were absent or hypoplastic. There was no gender difference. Let's share my experience with you.

What are the symptoms of congenital thymic hypoplasia?

1. After birth: ① special features, such as too wide eye distance, too small mandible, low auricle and other deformities; ② intractable hypocalcemia tetany, which can not be corrected by calcium supplement alone; ③ abnormal aortic arch, such as right aorta, tetralogy of Fallot and so on.

2. After the neonatal period, virus, fungus or Pneumocystis carinii infection occurs repeatedly, or the infection is a chronic process. Severe reactions or even death often occur to various live attenuated vaccines, such as vaccinia, BCG and measles vaccines. Severe patients are prone to bacterial infection.

Most complete DiGeorge patients died in infancy; In incomplete patients, T cell function improved spontaneously and the survival time was longer. For hypoparathyroidism and hypocalcemia, vitamin D and calcium should be used for a long time. In severe cases, fetal thymus tissue can be transplanted to improve immune function; In China, 3 cases of immunodeficient patients were treated with fetal thymus culture for about 14 days. Bone marrow or lymphoid tissue can also be transplanted, but the effect is uncertain. Congenital cardiovascular malformations can be treated surgically.

matters needing attention

There are no special requirements, just need to pay attention to the usual living habits. Others can be fed according to the doctor's instructions. The key to prevent this disease is to strengthen prenatal examination, in addition, patients should also pay attention to the prevention of infection.